First of all, Kris wanted me to clarify Samuel's current day to day status. He thought that from reading the blog people might get the impression that Samuel is on deaths door or laid up in bed somewhere. That is very far from the truth. Samuel is just as active and happy go lucky as your normal 4 year old. The only difference you might notice about Samuel is he potty's frequently because we try hard to keep him very hydrated. This helps to keep his kidney's flushed. But other than that you would never know he had a health problem. There are people with hyperoxaluria that are not diagnosed until 10 years of age or later because other than the red flag of a kidney stone or complete kidney failure there are no alarming symptoms of this disease.
Now to update you on happenings since Friday. Friday afternoon I received a comment on my blog from a mother who lives in California. She has 4 children and 3 of them have been diagnosed with hyperoxaluria. One of her little boys has already received a kidney and liver transplant. She left me her number and said to call her if I wanted to talk. I immediately wanted to talk to her. So I called and we shared stories. She was so positive considering all that she and her family have been through. She gave me names of Doctors at the Mayo Clinic in Rochester, MN and told me to get in contact with them. Most doctors, even specialist, know little or nothing about hyperoxaluria. So for her to put me in contact with the Mayo Clinic where PH patients are diagnosed and treated was wonderful. Especially since I was very disappointed in the referral we got last week. I just really felt like we were referred to just another nephrologist who would be unable to quickly get us answers. ***Becky if you are reading.......thank you so much. You are a God send to our family.****
I left a message at Mayo clinic after hours Friday and by Monday morning someone was calling. I was able to get a ton of information on the disease. We faxed them Samuel's urine studies and a doctor there quickly reviewed them and said yes his levels of oxalate are high and for the first time he suggested a game plan. Samuel is going to have a DNA blood tests checking the AGXT (G170R) gene mutation for Primary Hyperoxaluria patients. This G170R mutation is found in about
30% of patients with PH type I. The CLINICAL test is done through Mayo Medical Lab and has a pretty fast turn around ( around 2 weeks). He will have blood drawn here and it will be sent to Mayo in Rochester. This test will be helpful in planning the Samuel's current treatment if he should have hyperoxaluria. This test is for the G170R mutation and will tell us if Samuel is pyridoxine (or vitamin B6) responsive. If this test is negative, we will need additional testing.
The doctor at Mayo also recommended after looking at Samuel's urine studies that the other two boys have a 24 hour urine collection study done also. If nothing comes back alarming, then we will leave them out of the picture for now. Thank goodness. The blood and the urine test have already been ordered and it is just a matter of collecting urine and blood samples and sending it back to Mayo. Our local doctors have nothing to do with this. Which for now is nice because things seem to be moving very very quickly right now. We will keep our appointment in Atlanta because we still need a fairly local Nephrologist to work with Mayo through all of this.
I know this is so overwhelming, but for the first time I have such a peace about it. (We have a plan and I am actually talking to people that know what we are dealing with.) For so long my conversation with God has been.... You can carry me through this but I will carry Samuel and worry about him. I am so the definition of a Mama Bear. But God is reminding me He loves and cares for Samuel so much more than I ever could. That is so mind boggling to me, but it is truth. My goal right now is to concentrate one day at a time, knowing I do not carry this burden alone.
